TOP6BL

TOP6B like initiator of meiotic double strand breaks
OMIM: 616109, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TOP6BL in Mendeliome


Version 2.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Infertility disorder, MONDO:0005047, C11orf80-related
  • hydatidiform mole, recurrent, 4, MONDO:0032747
Tags
  • new gene name

Amber TOP6BL in Infertility and Recurrent Pregnancy Loss


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Infertility disorder, MONDO:0005047, C11orf80-related
  • hydatidiform mole, recurrent, 4, MONDO:0032747
Tags
  • new gene name

Red C11orf80_FRA11A_CGG STR in Repeat Disorders


Version 1.0

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability
Tags
  • paediatric-onset